Christodoulou J - Search Results

1

Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis.

Carpente KH, Wilcken B, Christodoulou J, Thorburn DR. Carpente KH, et al. Among authors: christodoulou j. J Inherit Metab Dis. 2000 Dec;23(8):845-6. doi: 10.1023/a:1026721021233. J Inherit Metab Dis. 2000. PMID: 11196112 No abstract available.

2

Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features.

Christodoulou J, Hoare J, Hammond J, Ip WC, Wilcken B. Christodoulou J, et al. J Pediatr. 1995 Jan;126(1):65-8. doi: 10.1016/s0022-3476(95)70504-x. J Pediatr. 1995. PMID: 7815228

3

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Rahman S, et al. Among authors: christodoulou j. Ann Neurol. 1996 Mar;39(3):343-51. doi: 10.1002/ana.410390311. Ann Neurol. 1996. PMID: 8602753

4

Pregnancy and argininosuccinic aciduria.

Worthington S, Christodoulou J, Wilcken B, Peat B. Worthington S, et al. Among authors: christodoulou j. J Inherit Metab Dis. 1996;19(5):621-3. doi: 10.1007/BF01799836. J Inherit Metab Dis. 1996. PMID: 8892017

5

First prenatal diagnosis of the carnitine transporter defect.

Christodoulou J, Teo SH, Hammond J, Sim KG, Hsu BY, Stanley CA, Watson B, Lau KC, Wilcken B. Christodoulou J, et al. Am J Med Genet. 1996 Dec 2;66(1):21-4. doi: 10.1002/(SICI)1096-8628(19961202)66:1<21::AID-AJMG5>3.0.CO;2-Z. Am J Med Genet. 1996. PMID: 8957505

6

Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin.

Ogle RF, Christodoulou J, Fagan E, Blok RB, Kirby DM, Seller KL, Dahl HH, Thorburn DR. Ogle RF, et al. Among authors: christodoulou j. J Pediatr. 1997 Jan;130(1):138-45. doi: 10.1016/s0022-3476(97)70323-8. J Pediatr. 1997. PMID: 9003864

7

Mitochondrial electron transport chain defect presenting as hypoglycemia.

Freckmann ML, Thorburn DR, Kirby DM, Kamath KR, Hammond J, Dennett X, Christodoulou J. Freckmann ML, et al. Among authors: christodoulou j. J Pediatr. 1997 Mar;130(3):431-6. doi: 10.1016/s0022-3476(97)70206-3. J Pediatr. 1997. PMID: 9063420

8

The association of protein-losing enteropathy with cobalamin C defect.

Ellaway C, Christodoulou J, Kamath R, Carpenter K, Wilcken B. Ellaway C, et al. Among authors: christodoulou j. J Inherit Metab Dis. 1998 Feb;21(1):17-22. doi: 10.1023/a:1005303128904. J Inherit Metab Dis. 1998. PMID: 9501265

9

Complex I deficiency in association with structural abnormalities of the diaphragm and brain.

Ellaway C, North K, Arbuckle S, Christodoulou J. Ellaway C, et al. Among authors: christodoulou j. J Inherit Metab Dis. 1998 Feb;21(1):72-3. doi: 10.1023/a:1005367515701. J Inherit Metab Dis. 1998. PMID: 9501272 No abstract available.

10

Novel Mitochondrial DNA Variant That May Give a False Positive Diagnosis for the T8993C Mutation.

White SL, Thorburn DR, Christodoulou J, Dahl HH. White SL, et al. Among authors: christodoulou j. Mol Diagn. 1998 Jun;3(2):113-117. doi: 10.154/MODI00300113. Mol Diagn. 1998. PMID: 10029662

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

598 results

Search Page

Filters